A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. In 2012, AFD1 has been associated with dominant mutations in SF3B4. We report a 22-week-old fetus with AFD1 associated with diaphragmatic hernia due to a previously unreported SF3B4 mutation (c.35-2A>G). Defective diaphragmatic development is a rare manifestation in AFD1 as it is described in only 2 previous cases, with molecular confirmation in 1 of them. Our molecular finding adds a novel pathogenic splicing variant to the SF3B4 mutational spectrum and contributes to defining its prenatal/fetal phenotype

Application of Crescent-Shaped Brace passive resisting system in RC frame structures

The design of building structures that is capable of providing prescribed seismic performances is the fundamental objective of the Performance-Based Seismic Design (PBSD) approach. Matching a particular seismic response requires additional design freedom that the conventional structural elements (beam/column) fail to provide. Here, it is worth to highlight the role of innovative lateral resisting systems such as base isolation and dissipative systems, which can add flexibility to the design and help to achieve prefixed seismic performance objectives. Among different solutions, the seismic design of a two-storey reinforced concrete building equipped with a novel hysteretic device, namely Crescent-Shaped Brace (CSB), is presented. CSBs are characterised by a unique geometrical configuration, leading to an optimized nonlinear force-displacement behaviour that allows the structure to achieve prescribed multiple seismic performances. In this paper, we propose a procedure for the seismic design of the CSB devices within the framework of PBSD. The global behaviour of the devices is studied and verified for a multi-storey shear-type building structure by means of numerical analyses. The results obtained confirm the validity of the proposed design method and the effectiveness of the new hysteretic device. The force-displacement curve of the building matches the objectives curve (i.e. the one corresponding to the predefined performance objectives), thus ensuring the fulfilment of the prescribed multi-seismic performances

Synthetic approaches to difluoroindolecarboxylic acid ethyl esters

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Ultrasound delivery of Surface Enhanced InfraRed Absorption active gold-nanoprobes into fibroblast cells: a biological study via Synchrotron-based InfraRed microanalysis at single cell level

Ultrasound (US) induced transient membrane permeabilisation has emerged as a hugely promising tool for the delivery of exogenous vectors through the cytoplasmic membrane, paving the way to the design of novel anticancer strategies by targeting functional nanomaterials to specific biological sites. An essential step towards this end is the detailed recognition of suitably marked nanoparticles in sonoporated cells and the investigation of the potential related biological effects. By taking advantage of Synchrotron Radiation fourier transform infrared micro-spectroscopy (SR-microftiR) in providing highly sensitive analysis at the single cell level, we studied the internalisation of a nanoprobe within fibroblasts (NIH-3T3) promoted by low-intensity US. To this aim we employed 20 nm gold nanoparticles conjugated with the IR marker 4-aminothiophenol. The significant Surface Enhanced Infrared Absorption provided by the nanoprobes, with an absorbance increase up to two orders of magnitude, allowed us to efficiently recognise their inclusion within cells. Notably, the selective and stable SR- microftiR detection from single cells that have internalised the nanoprobe exhibited clear changes in both shape and intensity of the spectral profile, highlighting the occurrence of biological effects. Flow cytometry, immunofluorescence and murine cytokinesis-block micronucleus assays confirmed the presence of slight but significant cytotoxic and genotoxic events associated with the US-nanoprobe combined treatments. our results can provide novel hints towards US and nanomedicine combined strategies for cell spectral imaging as well as drug delivery-based therapies

Toward coherent space-time mapping of seagrass cover from satellite data: An example of a Mediterranean lagoon

Seagrass meadows are a highly productive and economically important shallow coastal habitat. Their sensitivity to natural and anthropogenic disturbances, combined with their importance for local biodiversity, carbon stocks, and sediment dynamics, motivate a frequent monitoring of their distribution. However, generating time series of seagrass cover from field observations is costly, and mapping methods based on remote sensing require restrictive conditions on seabed visibility, limiting the frequency of observations. In this contribution, we examine the effect of accounting for environmental factors, such as the bathymetry and median grain size (D50) of the substrate as well as the coordinates of known seagrass patches, on the performance of a random forest (RF) classifier used to determine seagrass cover. Using 148 Landsat images of the Venice Lagoon (Italy) between 1999 and 2020, we trained an RF classifier with only spectral features from Landsat images and seagrass surveys from 2002 and 2017. Then, by adding the features above and applying a time-based correction to predictions, we created multiple RF models with different feature combinations. We tested the quality of the resulting seagrass cover predictions from each model against field surveys, showing that bathymetry, D50, and coordinates of known patches exert an influence that is dependent on the training Landsat image and seagrass survey chosen. In models trained on a survey from 2017, where using only spectral features causes predictions to overestimate seagrass surface area, no significant change in model performance was observed. Conversely, in models trained on a survey from 2002, the addition of the out-of-image features and particularly coordinates of known vegetated patches greatly improves the predictive capacity of the model, while still allowing the detection of seagrass beds absent in the reference field survey. Applying a time-based correction eliminates small temporal variations in predictions, improving predictions that performed well before correction. We conclude that accounting for the coordinates of known seagrass patches, together with applying a time-based correction, has the most potential to produce reliable frequent predictions of seagrass cover. While this case study alone is insufficient to explain how geographic location information influences the classification process, we suggest that it is linked to the inherent spatial auto-correlation of seagrass meadow distribution. In the interest of improving remote-sensing classification and particularly to develop our capacity to map vegetation across time, we identify this phenomenon as warranting further research

Olfactory dysfunction in patients with chronic rhinosinusitis with nasal polyps is associated with clinical-cytological grading severity

Chronic rhinosinusitis with nasal polyps (CRSwNP) is a common inflammatory disorder, affecting about 4% of the worldwide population and strongly impacting the quality of life. CRSwNP is still a challenge for ENT specialists in terms of its unknown pathogenesis, difficulty in management and frequent relapse. Olfactory impairment frequently affects CRSwNP patients. We tested the hypothesis that clinical-cytological grading (CCG) could be associated with olfactory dysfunction. The study was cross-sectional, enrolling 62 patients (37 males, 25 females, mean age 49 years, range 18-83) suffering from newly diagnosed CRSwNP. Olfactory dysfunction was very frequent (about 90%) and did not depend on nasal obstruction as assessed by both polyp size and nasal airflow limitation. A CCG > 4 was the best cutoff value to suspect olfactory dysfunction [area under the ROC curve of 0.831 (0.715 to 0.914)]; in addition, the statistical risk of having dysosmia was over 7-fold higher in subjects with CCG > 4 compared with subjects reporting a CCG < 4 (adjOR 7.46). The present study underlines that olfactory dysfunction is common in CRSwNP patients and demonstrates an association between olfactory dysfunction and inflammation, suggesting that CCG could be useful in the work-up of CRSwNP patients and in suspecting olfactory impairment